Table 2.
Available information about genitourinary (GU) phenotype of patients reported in this study. Eleven patients have GU phenotype. This strongly suggests an important role for DYRK1A in GU tract development.
| Case Number |
SNV | Segregation | Renal or GU Phenotype |
|---|---|---|---|
| P1 | p.N151fs | Mother negative, father's sample unavailable | Mild unilateral pelviectasis (HP:0010946) and frequent UTIs (HP:0000010) |
| P2 | p.K154fs | De Novo | Genital anomalies (HP:0000078) |
| P3 | p.L164fs | De Novo | Kidney abnormalities (not specified; HP:0000077) |
| P4 | p.G168fs | De Novo | Hypospadias (HP:0000047), micropenis (HP:0000054), and congenital chordee (HP:0000041) |
| P5 | p.V173F | De Novo | Renal ultrasound is normal with normal genitalia on exam |
| P6 | p.R205X | De Novo | Left renal agenesis (HP:0000122) |
| P7 | p.L245R | De Novo | Left renal agenesis (HP:0000122) |
| P8 | p.R263X | De Novo | Shawl scrotum (HP:0000049) and history bilateral orchiopexy (HP:0000028) |
| P9 | p.S329fs | De Novo | Hypospadias (HP:0000047) and kidney abnormalities (tiny echogenic foci) |
| P10 | p.G348R | De Novo | Normal renal ultrasound |
| P11 | c.1098+1G>A | De Novo | Unknown |
| P12 | p.A388fs | Mother negative, Father is mosaic | Frequent UTI (HP:0000010) |
| P13 | p.K406fs | De Novo | Unknown |
| P14 | p.R437X | De Novo | Unknown |
| P15 | p.R437X | Mother negative, father's sample unavailable | Normal renal ultrasound |
| P16 | p.R437X | De Novo | Normal renal ultrasound |
| P17 | p.R467Q | De Novo | Unknown |
| P18 | p.R467X | De Novo | Orchiopexy (HP:0000028) and inguinal hernia (HP:0000023) |
| P19 | p.S494fs | De Novo | Bilateral inguinal hernias (HP:0000023) but no renal ultrasound |